ArticleNucleic acids research2015
DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data.
Article in Nucleic acids research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia.Diagnostics (Basel, Switzerland) · 2023Review
- Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.Nucleic acids research · 2022Article
- Enhancing interpretation of clinical disease-associated copy number variations from multiple sequencing strategies with CNVSeeker.Bioinformatics (Oxford, England) · 2022Article
- Benchmarking germline CNV calling tools from exome sequencing data.Scientific reports · 2021Article
- AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.Nucleic acids research · 2021Article
- A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency.Genome biology · 2021Article
- Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center.Journal of molecular neuroscience : MN · 2021Article
- A Density Peak-Based Method to Detect Copy Number Variations From Next-Generation Sequencing Data.Frontiers in genetics · 2020Article
- inCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing.Evolutionary bioinformatics online · 2020Review
- Accurate Inference of Tumor Purity and Absolute Copy Numbers From High-Throughput Sequencing Data.Frontiers in genetics · 2020Article
- iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization.PloS one · 2018Article
- Anaconda: AN automated pipeline for somatic COpy Number variation Detection and Annotation from tumor exome sequencing data.BMC bioinformatics · 2017Article
- A Novel Role forFrontiers in genetics · 2017Article
- cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data.BMC genomics · 2016Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With the decrease in costs, whole-exome sequencing (WES) has become a very popular and powerful tool for the identification of genetic variants underlying human diseases. However, integrated tools to precisely detect and systematically annotate copy number variations (CNVs) from WES data are still in great demand. Here, we present an online tool, DeAnnCNV (Detection and Annotation of Copy Number Variations from WES data), to meet the current demands of WES users. Upon submitting the file generated from WES data by an in-house tool that can be downloaded from our server, DeAnnCNV can detect CNVs in each sample and extract the shared CNVs among multiple samples. DeAnnCNV also provides additional useful supporting information for the detected CNVs and associated genes to help users to find the potential candidates for further experimental study. The web server is implemented in PHP + Perl + MATLAB and is online available to all users for free at http://mcg.ustc.edu.cn/db/cnv/.
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